Acid Alpha Mannosidase Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Acid alpha-mannosidase (also known as lysosomal alpha-mannosidase or MAN2B1) is a crucial lysosomal hydrolase enzyme encoded by the MAN2B1 gene. This enzyme catalyzes the hydrolysis of terminal alpha-mannose residues from mannose-containing oligosaccharides, playing an essential role in glycoprotein catabolism within lysosomes. Deficiency of this enzyme causes alpha-mannosidosis, a rare lysosomal storage disorder. [1]
{.infobox .infobox-protein} [2]
| Attribute | Value |
|---|---|
| Protein Name | Acid Alpha-Mannosidase |
| Gene | MAN2B1 |
| UniProt ID | O00754 |
| Molecular Weight | ~280 kDa (homodimer) |
| Length | 1,001 amino acids (precursor) |
| Subcellular Localization | Lysosome |
| Protein Family | Glycoside hydrolase family 38 |
Acid alpha-mannosidase is a lysosomal hydrolase with the following structural features:
The enzyme requires optimal acidic pH (around 4.5-5.0) for activity, consistent with the lysosomal environment.
Acid alpha-mannosidase plays a critical role in glycoprotein catabolism:
The enzyme works in concert with other lysosomal hydrolases to completely degrade complex N-linked glycoproteins.
Deficiency of acid alpha-mannosidase leads to accumulation of mannose-rich oligosaccharides in lysosomes throughout the body, particularly affecting:
Disease Severity: Correlates with residual enzyme activity - patients with <1% activity have severe phenotype, while 1-10% activity shows milder disease.
The study of Acid Alpha Mannosidase Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Borgwardt et al. Clinical efficacy of velmanase alfa (2015). 2015. ↩︎